vha-6 encodes an ortholog of subunit a of the membrane-bound (V0) domainof vacuolar proton-translocating ATPase (V-ATPase); VHA-6 is orthologousto human ATP6N1A (OMIM:192130), ATP6V0A2, ATP6V0A4 (OMIM:605239, mutatedin distal renal tubular acidosis), and TCIRG1 (OMIM:604592, mutated inosteopetrosis); VHA-6 is expressed in germline (P2 through Z3 cellsuntil the comma stage), on the apical surface of postembryonicintestinal cells, and at the junction between pharynx and intestine;VHA-6 is required for growth and survival past the L1 larval stage;vha-6(RNAi) animals arrest as L1 larvae and remain alive (but do notgrow) for one week; in S. cerevisiae, different V0 a-subunits (Stv1p andVph1p) direct the assembly of V-ATPases to different membranes andorganelles, suggesting that the profusion of such subunits in C. elegans(co-orthologous VHA-5, VHA-6, VHA-7, and six UNC-32 isoforms) may have asimilar function; VHA-6 is predicted to capture protons from V-ATPasetransmembrane rotor components and export the protons across themembrane.
Predicted to enable ATPase binding activity. Involved in nematode larval development. Located in apical plasma membrane. Part of vacuolar proton-transporting V-type ATPase complex. Expressed in Psub2; excretory cell; hypodermis; pharyngeal-intestinal valve; and uterus. Human ortholog(s) of this gene implicated in several diseases, including autosomal recessive cutis laxa type IIA; autosomal recessive osteopetrosis 1; and developmental and epileptic encephalopathy 104. Is an ortholog of several human genes including ATP6V0A1 (ATPase H+ transporting V0 subunit a1); ATP6V0A2 (ATPase H+ transporting V0 subunit a2); and TCIRG1 (T cell immune regulator 1, ATPase H+ transporting V0 subunit a3).
Sequence From: Pujol Nathalie via ACEDB feedback page <pujol@lgpd.univ-mrs.fr>
Map position created from combination of previous interpolated map position (based on known location of sequence) and allele information. Therefore this is not a genetic map position based on recombination frequencies or genetic experiments. This was done on advice of the CGC.